XPV
MCID: XRD010
MIFTS: 29

Xeroderma Pigmentosum, Variant Type (XPV) malady

Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Xeroderma Pigmentosum, Variant Type

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46OMIM, 32MalaCards
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MalaCards: Xeroderma Pigmentosum, Variant Type, also known as XPV, is related to xeroderma pigmentosum and angiosarcoma, and has symptoms including skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma), telangiectasiae of the skin and dry/squaly skin/exfoliation. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (polymerase (DNA directed), eta). Affiliated tissues include skin.

Description from OMIM:46 278750

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Cancer diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

xeroderma pigmentosum, variant type 42 22 46 60
xpv 42 48
xeroderma pigmentosum with normal dna repair rates 42
photosensitivity with defective dna synthesis 42
xeroderma pigmentosum variant 48


External Ids:

OMIM46 278750
MESH via Orphanet35 C536766
ICD10 via Orphanet26 Q82.1
SNOMED-CT via Orphanet57 88877002
UMLS via Orphanet61 C0432328, C1848410
ICD1025 Q82.1

Related Diseases for Xeroderma Pigmentosum, Variant Type

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17GeneCards, 18GeneDecks
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Clinical Features for Xeroderma Pigmentosum, Variant Type

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

278750

Clinical synopsis from OMIM:

278750

Symptoms:

48 (show all 10)
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • telangiectasiae of the skin
  • dry/squaly skin/exfoliation
  • skin hypoplasia/aplasia/atrophy
  • autosomal recessive inheritance
  • warts/papillomas
  • telangiectasic erythema/poikiloderma
  • excessive freckling
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • skin photosensitivity

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Xeroderma Pigmentosum, Variant Type

Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Variant Type

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Search CenterWatch for Xeroderma Pigmentosum, Variant Type

Genetic Tests for Xeroderma Pigmentosum, Variant Type

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22GTR
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Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type22

Anatomical Context for Xeroderma Pigmentosum, Variant Type

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32MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

32
Skin

Animal Models for Xeroderma Pigmentosum, Variant Type or affiliated genes

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Publications for Xeroderma Pigmentosum, Variant Type

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Genetic Variations for Xeroderma Pigmentosum, Variant Type

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Xeroderma Pigmentosum, Variant Type:

62
id Symbol AA change Variation ID SNP ID
1POLHp.Arg111HisVAR_021227
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Variant Type

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Compounds for genes affiliated with Xeroderma Pigmentosum, Variant Type

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GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Products for genes affiliated with Xeroderma Pigmentosum, Variant Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Xeroderma Pigmentosum, Variant Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet